X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis.

Abstract

Objective: To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family.

Design: Haplotype segregation analysis.

Setting: Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany.

Participants: Fourteen members of a family with XLP.

Interventions: None.

Measurements/main results: Using molecular genetic techniques, we diagnosed the XLP status of the members of a German family. Restriction fragment length polymorphism analysis with closely linked polymorphic X-chromosomal DNA markers (Xq25-q27) revealed XLP carrier status in a female infant. Moreover, the XLP mutation was suggested to have occurred in the germ cell of the grandfather.

Conclusion: This is the first report of a paternally inherited XLP mutation. The recurrence risk for germ cell mosaicism in XLP may be similar to that of X-linked Duchenne muscular dystrophy.